Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

The human gene for the hepatic enzyme phenylalanine hydroxylase has been cloned and used to analyse the phenylalanine hydroxylase locus in the human genome. The detection of polymorphisms in this locus by several restriction enzymes has allowed feasibility studies of prenatal diagnosis of classical phenylketonuria and identification of carriers of the trait. Results indicate that these services could be provided for up to 75% of all families with phenylketonuric children in the general Caucasian population.     

Study on Injection Moulding of High Precision Aspheric Plastic Lens

With the rapid development of information and multi me dia technologies, the demand for the optical plastic aspheric elements used in o pto-electronic devices, camera, optical disc and projector lens etc. has been i ncreased rapidly in the recent years. The key technologies of fabrication of asp heric plastic lens are the design and manufacturing moulds, selection of proper injection moulding equipment, and optimization of injection moulding parameters etc. In this paper, the effect of injection pressure,...     

Research on Nanofabrication Technology of Micro-/Nano-Stereo Rapid Prototyping of PCVD

At present, the most common micro/nano-scale fabri ca tion processes include the plane silicon process based on IC technology, stereo silicon process, LIGA, quasi-LIGA based on near ultra violet deep lithography, MEMS, energy beam etching and micro/nano-machining, etc. A common problem for t hese processes is the difficulty to fabricate arbitrary form for 3-dimensional micro/nano-parts, devices or mechanisms. To develop advanced MEMS manufacturin g technology, and to achieve fabrication of true 3-dimen...     

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse circulating compounds. This work implicates a pathway with potential pharmacological therapeutic targets.